A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype.

Several patients with chromosomal deletions including ZFHX4 gene have been described, whereas point mutations are very rare. This gene encodes for a transcription factor involved in the development of several embryonal processes, including brain differentiation. Patients with 8q21.11 deletions usually show intellectual disability, short stature, peculiar facial features, and severe eye abnormalities. We describe a female patient with mild intellectual disability, autism spectrum disorder, strabismus, ptosis, low-set and prominent ears, high-arched palate, microretrognathia. Clinical Exome Sequencing revealed the presence of a de novo heterozygous variant in ZFHX4. Therefore, we further investigate the different phenotypes of ZFHX4 mutations and 8q21.11 deletions. Copyright © 2021 Elsevier Masson SAS. All rights reserved.

Citation

Paolo Fontana, Monia Ginevrino, Kristel Bejo, Giuseppina Cantalupo, Maria Ciavarella, Cinzia Lombardi, Marianna Maioli, Francesca Scarano, Claudia Costabile, Antonio Novelli, Fortunato Lonardo. A ZFHX4 mutation associated with a recognizable neuropsychological and facial phenotype. European journal of medical genetics. 2021 Nov;64(11):104321

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PMID: 34461323

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